title: Unsuspected hereditary hemochromatosis at forensic autopsy: its presentation, confirmation, and implications.
abstract: Hereditary hemochromatosis (HH) is one of the most common genetic disorders and may present clinically in a variety of ways. The most common presentation is micronodular cirrhosis with possible associated diabetes. However, HH may also present with cardiac dysfunction and sudden death. The confirmation of unsuspected HH at autopsy is complicated by the growing number of genetic abnormalities, which are not detected by current commercial genetic testing for C282Y and H63D mutations. Consequently, quantitative liver iron studies on fresh or paraffin embedded liver is recommended in confirming HH. The importance of detection and confirmation of HH cannot be overemphasized given the need to screen surviving family members in preventing organ damage of asymptomatic individuals. We present a case of a 38-year-old white woman with micronodular cirrhosis secondary to unsuspected HH that was confirmed by a quantitative liver iron study. The possible presentation of cardiac sudden death from HH, confirmation issues and implications of a HH diagnosis for surviving family members are also discussed.
authors.affiliation: Allegheny County Medical Examiner's Office, 1520 Penn. Ave., Pittsburgh, PA 15222, USA. webmaster.me@county.allegheny.pa.us
authors.forename: Michael
authors.initials: M
authors.lastname: Panella
authors.forename: Steven A
authors.initials: SA
authors.lastname: Koehler
authors.forename: Abdulrezzak
authors.initials: A
authors.lastname: Shakir
authors.forename: Karl
authors.initials: K
authors.lastname: Williams
mesh_terms: D000328:Adult; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D049429:Forensic Pathology; D006432:Hemochromatosis / Q000175:diagnosis*; D006801:Humans; D007501:Iron / Q000032:analysis*; D008099:Liver / Q000737:chemistry* / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics / Q000473:pathology*; D010195:Pancreatitis / Q000473:pathology; D010493:Pericarditis / Q000473:pathology; D013163:Splenomegaly / Q000473:pathology
chemical_list: D007501:Iron